A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221237



Internal ID22365689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:235797377..235812497hg38UCSC Ensembl
Outerchr2:236706021..236721141hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38706
hg19706
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265197, nssv14265196, nssv14265198, nssv14265195
SamplesHG00512, NA19238, HG00732, HG00733
Known GenesAGAP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221237
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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